| Phenotype: | Bietti crystalline corneoretinal dystrophy |
|---|---|
| Dna Change: | c.332T>C |
| Protein Change: | p.Ile111Thr |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 3 |
| Transcript: | NM_207352.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Lebanon | NA | NA | 2 families/3 unrelated families | NA | Haddad NM et al., 2012Haddad NM, Waked N, Bejjani R, Khoueir Z, Chouery E, Corbani S, Mégarbané A, . Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.. Mol. Vis.. 2012; 18(0):1182-8 |
Haddad NM, Waked N, Bejjani R, Khoueir Z, Chouery E, Corbani S, Mégarbané A, Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.Mol. Vis.. 2012; 18(0):1182-8